title: Phenotypic and dermatological manifestations in Down Syndrome.
abstract: Down syndrome (DS) is associated with various uncommon dermatological disorders and increased frequency of some common dermatoses. This study was conducted over a 2-year period to evaluate the frequency of phenotypic and dermatologic manifestations in patients with Down syndrome in south India. The most common phenotypic manifestations that characterize DS include the epicanthic fold (93.7%), brachicephaly (90.6%), flat nasal bridge (84.2%), upward angle of eyes (83.2%), wide gap between first and second toe (81.1%), clinodactyly (77.9%), small nose (74.7%), short broad neck (72.6%), single palmar crease (61.1%), increased nuchal skin fold (61.1%), and fissured tongue (52.6%). The most common dermatological manifestation seen in patients with DS were lichenification, xerosis, dental anomaly, fine, sparse hair, and delayed dentition. Alopecia areata was seen in 9.4 percent of patients and tended to be severe. Infections were relatively less common in our study. Our study has highlighted many phenotypic features and dermatoses, which may help provide better care for patients and counseling to the families.
authors.affiliation: Aarupadai Veedu Medical College and Hospital, Vinayaka Missions University, Pondicherry, India. moscowsuresh@gmail.com
authors.forename: Rengasamy
authors.initials: R
authors.lastname: Sureshbabu
authors.forename: Rashmi
authors.initials: R
authors.lastname: Kumari
authors.forename: Subramaniam
authors.initials: S
authors.lastname: Ranugha
authors.forename: Ramanathan
authors.initials: R
authors.lastname: Sathyamoorthy
authors.forename: Carounanidy
authors.initials: C
authors.lastname: Udayashankar
authors.forename: Paquirissamy
authors.initials: P
authors.lastname: Oudeacoumar
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000209:etiology; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital / Q000209:etiology; D006228:Hand Deformities, Congenital / Q000209:etiology; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D010641:Phenotype; D012871:Skin Diseases / Q000209:etiology*; D014063:Tongue, Fissured / Q000209:etiology; D055815:Young Adult